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HBAP1 hemoglobin subunit alpha pseudogene 1 [ Homo sapiens (human) ]

Gene ID: 3041, updated on 1-Mar-2024

Summary

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Official Symbol
HBAP1provided by HGNC
Official Full Name
hemoglobin subunit alpha pseudogene 1provided by HGNC
Primary source
HGNC:HGNC:4825
See related
Ensembl:ENSG00000225323 AllianceGenome:HGNC:4825
Gene type
pseudo
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HBA3; HBA3P; HBA-T1; HBA-T1ps
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Genomic context

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Location:
16p13.3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (168641..169452)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (162675..163486)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (218640..219451)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:213784-214284 Neighboring gene hemoglobin subunit zeta pseudogene 1 Neighboring gene hemoglobin subunit mu Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr16:220059-220561 Neighboring gene hemoglobin subunit alpha 2 recombination region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:221864-222604 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:223344-224083 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:224084-224822 Neighboring gene hemoglobin subunit alpha 2 Neighboring gene hemoglobin subunit alpha 1 recombination region Neighboring gene hemoglobin subunit alpha 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. The structure of a human alpha-globin pseudogene and its relationship to alpha-globin gene duplication. Proudfoot NJ, et al. Cell, 1980 Sep. PMID 7407925
  2. Dysfunctional alpha-globin gene in hemoglobin H disease in blacks. A dinucleotide deletion produces a frameshift and a termination codon. Safaya S, et al. J Biol Chem, 1988 Mar 25. PMID 2831226
  3. Distinctive sequence organization and functional programming of an Alu repeat promoter. Perez-Stable C, et al. Proc Natl Acad Sci U S A, 1984 Sep. PMID 6089189, Free PMC Article
  4. End-to-end transcription of an Alu family repeat. A new type of polymerase-III-dependent terminator and its evolutionary implication. Hess J, et al. J Mol Biol, 1985 Jul 5. PMID 2411938
  5. Partial deletion of the alpha-globin structural gene in human alpha-thalassaemia. Orkin SH, et al. Nature, 1980 Jul 31. PMID 7402334

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

General gene information

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Markers

Other Names

  • alpha globin pseudogene 1
  • hemoglobin, alpha pseudogene 1

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    168641..169452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    162675..163486
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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Chemical Information
Molecular Biology Databases